This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Glu187_Cys190delinsAspLysAlaVal;Lys193_Glu199delinsArgArgAlaProArgThrSer;Arg201_Asp204delinsAlaAlaThrMet;Lys206_Ile208delinsSerAla;Arg210_Asp217delinsLeuGlySerSerSerValThrGln]
CA042799
ENST00000252444.10:c.561del